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showing 10 items of 12132 documents

Genome-wide association study of non-alcoholic fatty liver and steatohepatitis in a histologically characterised cohort☆

2020

Background & Aims: Genetic factors associated with nonalcoholic fatty liver disease (NAFLD) remain incompletely understood. To date, most genome-wide association studies (GWASs) have adopted radiologically assessed hepatic triglyceride content as the reference phenotype and so cannot address steatohepatitis or fibrosis. We describe a GWAS encompassing the full spectrum of histologically characterised NAFLD. Methods: The GWAS involved 1,483 European NAFLD cases and 17,781 genetically matched controls. A replication cohort of 559 NAFLD cases and 945 controls was genotyped to confirm signals showing genome-wide or close to genome-wide significance. Results: Case-control analysis identified…

0301 basic medicineMaleCirrhosis17-Hydroxysteroid DehydrogenasesFibrosiVARIANTLOCIPROGRESSIONGenome-wide association studyDiseaseBioinformaticsDISEASECohort Studies0302 clinical medicineNon-alcoholic Fatty Liver DiseaseRisk FactorsGWASINCREASED RISKCONFERS SUSCEPTIBILITYeducation.field_of_studyFatty liverNASHMiddle Aged3. Good healthNAFLD; NASH; Fibrosis; GWAS; PNPLA3; TM6SF2; GCKR; HSD17B13; SNPPhenotypeLiver030211 gastroenterology & hepatologyFemaleLife Sciences & BiomedicineGCKRAdultPopulationSNP610 Medicine & healthGastroenterology and HepatologyPolymorphism Single NucleotideTM6SF2HSD17B1303 medical and health sciencesNAFLDmedicineGastroenterologiHumansGenetic Predisposition to DiseaseeducationPNPLA3Adaptor Proteins Signal TransducingScience & TechnologyGastroenterology & HepatologyHepatologybusiness.industrynutritional and metabolic diseasesMembrane ProteinsLipasemedicine.diseaseFibrosisPOLYMORPHISMLEPTIN RECEPTOR GENE030104 developmental biology3121 General medicine internal medicine and other clinical medicineCase-Control StudiesHuman medicineSteatosisSteatohepatitisbusinessTM6SF2Genome-Wide Association StudyJournal of Hepatology
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NKp46-expressing human gut-resident intraepithelial Vδ1 T cell subpopulation exhibits high antitumor activity against colorectal cancer

2019

γδ T cells account for a large fraction of human intestinal intraepithelial lymphocytes (IELs) endowed with potent anti-tumor activities. However, little is known about their origin, phenotype and clinical relevance in colorectal cancer (CRC). To determine γδ IEL gut-specificity, homing and functions, γδ T cells were purified from human healthy blood, lymph nodes, liver, skin, intestine either disease-free or affected by CRC or generated from thymic precursors. The constitutive expression of NKp46 specifically identifies a new subset of cytotoxic Vδ1 T cells representing the largest fraction of gut-resident IELs. The ontogeny and gut-tropism of NKp46pos/Vδ1 IELs depends both on distinctive …

0301 basic medicineMaleColorectal cancerImmunotherapy AdoptiveMice0302 clinical medicineSex Hormone-Binding GlobulinCytotoxic T cellAntigens LyIntestinal MucosaIntraepithelial LymphocytesInnate immunityAged 80 and overGastroenterologyAge FactorsReceptors Antigen T-Cell gamma-deltaGeneral MedicineMiddle AgedPhenotypemedicine.anatomical_structure030220 oncology & carcinogenesisDisease ProgressionFemaleColorectal NeoplasmsResearch ArticleAdultColonT cellImmunologyT cellsBiologydigestive systemColorectal cancer; Gastroenterology; Immunology; Innate immunity; T cells03 medical and health sciencesYoung AdultIleummedicineAnimalsHumansAgedNeoplasm StagingTumor microenvironmentInnate immune systemNatural Cytotoxicity Triggering Receptor 1medicine.diseaseColorectal cancer030104 developmental biologyCancer researchIntraepithelial lymphocyteHoming (hematopoietic)T-Lymphocytes Cytotoxic
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Phase III, randomised trial of avelumab versus physician's choice of chemotherapy as third-line treatment of patients with advanced gastric or gastro…

2018

BACKGROUND: There currently are no internationally recognised treatment guidelines for patients with advanced gastric cancer/gastro-oesophageal junction cancer (GC/GEJC) in whom two prior lines of therapy have failed. The randomised, phase III JAVELIN Gastric 300 trial compared avelumab versus physician's choice of chemotherapy as third-line therapy in patients with advanced GC/GEJC. PATIENTS AND METHODS: Patients with unresectable, recurrent, locally advanced, or metastatic GC/GEJC were recruited at 147 sites globally. All patients were randomised to receive either avelumab 10 mg/kg by intravenous infusion every 2 weeks or physician's choice of chemotherapy (paclitaxel 80 mg/m2 on days 1, …

0301 basic medicineMaleEsophageal Neoplasmsmedicine.medical_treatmentchemotherapyGastroenterologyChoice Behaviorlaw.invention0302 clinical medicineRandomized controlled triallawAntineoplastic Combined Chemotherapy ProtocolsClinical endpointMedicinePractice Patterns Physicians'Aged 80 and overHazard ratioAntibodies MonoclonalHematologyMiddle AgedPrognosisChemotherapy regimenAdenocarcinoma MucinousSurvival RateOncology030220 oncology & carcinogenesisFemaleImmunotherapyEsophagogastric Junctionmedicine.drugPD-L1Adultmedicine.medical_specialtyAdolescentPaclitaxelAdenocarcinomaAntibodies Monoclonal HumanizedIrinotecanDecision Support Techniquesgastro-oesophageal junction cancer03 medical and health sciencesYoung AdultStomach NeoplasmsInternal medicineGastrointestinal TumorsHumansddc:610Survival rateAgedChemotherapybusiness.industrygastric cancerInternational AgenciesOriginal Articlesphase IIICarcinoma PapillaryClinical trialIrinotecanEditor's Choice030104 developmental biologyavelumabNeoplasm Recurrence LocalbusinessCarcinoma Signet Ring CellBiomarkersFollow-Up Studies
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Expression quantitative trait loci for PAX8 contributes to the prognosis of hepatocellular carcinoma

2017

Paired-box family member PAX8 encodes a transcription factor that has a role in cell differentiation and cell growth and may participate in the prognosis of hepatocellular carcinoma (HCC). By bioinformatics analysis, we identified several single nucleotide polymorphisms (SNPs) within a newly identified long non-coding RNA (lncRNA) AC016683.6 as expression quantitative trait loci (eQTLs) for PAX8. Hence, we hypothesized that PAX8eQTLs in lncRNA AC016683.6 may influence the HCC prognosis. We then performed a case-only study to assess the association between the two SNPs as well as the prognosis of HCC in 331 HBV-positive HCC patients without surgical treatment. Cox proportional hazard models …

0301 basic medicineMaleHeredityPaired BoxCancer Treatmentlcsh:MedicineBiochemistry0302 clinical medicineMathematical and Statistical TechniquesMedicine and Health Scienceslcsh:ScienceMultidisciplinaryPharmaceuticsLiver DiseasesLiver NeoplasmsMiddle AgedPrognosisNucleic acidsSurvival RateGenetic MappingOncology030220 oncology & carcinogenesisHepatocellular carcinomaPhysical SciencesRegression AnalysisFemaleLiver cancerStatistics (Mathematics)Research ArticleCarcinoma HepatocellularGenotypeQuantitative Trait LociSingle-nucleotide polymorphismVariant GenotypesGastroenterology and HepatologyResearch and Analysis MethodsCarcinomasPolymorphism Single Nucleotide03 medical and health sciencesPAX8 Transcription FactorProtein DomainsDrug TherapyDiagnostic MedicineGastrointestinal TumorsCarcinomamedicineGeneticsChemotherapyHumansGenetic Predisposition to DiseaseAlleleStatistical MethodsNon-coding RNASurvival rateSurvival analysisAllelesbusiness.industrylcsh:RCancers and NeoplasmsBiology and Life SciencesProteinsHepatocellular Carcinomamedicine.disease030104 developmental biologyExpression quantitative trait lociCancer researchLong non-coding RNAsRNAlcsh:QbusinessMathematicsPLoS ONE
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Maternal inflammation has a profound effect on cortical interneuron development in a stage and subtype-specific manner

2018

AbstractSevere infections during pregnancy are one of the major risk factors for cognitive impairment in the offspring. It has been suggested that maternal inflammation leads to dysfunction of cortical GABAergic interneurons that in turn underlies cognitive impairment of the affected offspring. However, the evidence comes largely from studies of adult or mature brains and how the impairment of inhibitory circuits arises upon maternal inflammation is unknown. Here we show that maternal inflammation affects multiple steps of cortical GABAergic interneuron development, i.e., proliferation of precursor cells, migration and positioning of neuroblasts, as well as neuronal maturation. Importantly,…

0301 basic medicineMaleInterneuronOffspringNeurogenesisMothersInflammationBiologyInhibitory postsynaptic potentialArticle03 medical and health sciencesCellular and Molecular NeuroscienceMice0302 clinical medicineNeuroblastCell MovementInterneuronsPregnancyPrecursor cellmedicineAnimalsCognitive DysfunctionGABAergic NeuronsMolecular BiologyCell ProliferationCerebral CortexInflammationPregnancyCell growthNeurogenesisCognitionmedicine.diseaseMice Inbred C57BLPsychiatry and Mental health030104 developmental biologymedicine.anatomical_structurenervous systemPrenatal Exposure Delayed EffectsGABAergicFemalemedicine.symptomPsychiatric disordersNeuroscience030217 neurology & neurosurgeryNeuroscience
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Microevolution of bank voles (Myodes glareolus) at neutral and immune-related genes during multiannual dynamic cycles: consequences for Puumala hanta…

2017

ABSTRACTUnderstanding how host dynamics, including variations of population size and dispersal, may affect the epidemiology of infectious diseases through ecological and evolutionary processes is an active research area. Here we focus on a bank vole (Myodes glareolus) metapopulation surveyed in Finland between 2005 and 2009. Bank vole is the reservoir of Puumala hantavirus (PUUV), the agent of nephropathia epidemica (NE, a mild form of hemorrhagic fever with renal symptom) in humans.M glareoluspopulations experience multiannual density fluctuations that may influence the level of genetic diversity maintained in bank voles, PUUV prevalence and NE occurrence. We examine bank vole metapopulati…

0301 basic medicineMaleMyxovirus Resistance Proteins0106 biological sciencesSELECTIONPopulation geneticsPopulation DynamicsGene ExpressionPopulation geneticsNATURAL-POPULATIONPuumala virus01 natural sciencesRodent DiseasesNephropathia epidemicaFinlandGeneticsMolecular Epidemiology0303 health scienceseducation.field_of_studyRodentArvicolinaeMicroevolutionBiological EvolutionBank voleInfectious DiseasesMHC DIVERSITYHemorrhagic Fever with Renal SyndromeHost-Pathogen Interactions[SDV.IMM]Life Sciences [q-bio]/ImmunologyFemaleDisease SusceptibilityDensity fluctuationsMicrobiology (medical)Gene FlowPopulationMetapopulationBiologyMicrobiology010603 evolutionary biology03 medical and health sciencesGenetic driftGeneticsmedicineImmunogeneticsAnimalsHumansPOPULATION-STRUCTUREAdaptationeducationMolecular BiologyEcology Evolution Behavior and SystematicsDisease Reservoirs030304 developmental biologyTOLL-LIKE RECEPTORSHost-pathogen interactionPolymorphism Genetic[SDV.GEN.GPO]Life Sciences [q-bio]/Genetics/Populations and Evolution [q-bio.PE]MX2 PROTEINGenetic DriftNECROSIS-FACTOR-ALPHADENSITY-FLUCTUATIONSmedicine.diseasebiology.organism_classificationEUROPEAN ROE DEERToll-Like Receptor 4030104 developmental biologyToll-Like Receptor 7Evolutionary biology3121 General medicine internal medicine and other clinical medicineVoleRODENT HOST[SDV.EE.IEO]Life Sciences [q-bio]/Ecology environment/Symbiosis
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Ibrutinib, obinutuzumab, and venetoclax in relapsed and untreated patients with mantle cell lymphoma: a phase 1/2 trial.

2020

Abstract Ibrutinib, obinutuzumab, and venetoclax demonstrate synergy in preclinical models of mantle cell lymphoma (MCL). OAsIs (NCT02558816), a single-arm multicenter prospective phase 1/2 trial, aimed to determine the maximum tolerated dose of venetoclax in combination with fixed doses of ibrutinib and obinutuzumab, in relapsed MCL patients. At the venetoclax MTD, extension cohorts were opened for relapsed and untreated patients. Safety and efficacy were secondary objectives. Minimal residual disease (MRD) was assessed by allele-specific oligonucleotide quantitative polymerase chain reaction. Between 14 October 2015 and 29 May 2018, 48 patients were enrolled. No dose-limiting toxicity was…

0301 basic medicineMaleNeoplasm Residualmedicine.medical_treatmentImmunoglobulin Variable RegionHematopoietic stem cell transplantationKaplan-Meier EstimateLymphoma Mantle-CellBiochemistryGastroenterologychemistry.chemical_compound0302 clinical medicinePiperidinesObinutuzumabAntineoplastic Combined Chemotherapy ProtocolsProspective StudiesProspective cohort studyAged 80 and overSulfonamidesHematopoietic Stem Cell TransplantationHematologyMiddle AgedCombined Modality TherapyProgression-Free Survival3. Good healthTreatment Outcome030220 oncology & carcinogenesisIbrutinibFemaleImmunoglobulin Heavy Chainsmedicine.medical_specialtyMaximum Tolerated DoseImmunologyAntibodies Monoclonal Humanized03 medical and health sciencesInternal medicinemedicineHumansProgression-free survivalAgedVenetoclaxbusiness.industryAdenineCell Biologymedicine.diseaseBridged Bicyclo Compounds HeterocyclicGenes p53Minimal residual diseaseHematologic Diseases030104 developmental biologychemistryMutationMantle cell lymphomabusinessFollow-Up StudiesBlood
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An international registry for primary ciliary dyskinesia

2016

Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder leading to chronic upper and lower airway disease. Fundamental data on epidemiology, clinical presentation, course and treatment strategies are lacking in PCD. We have established an international PCD registry to realise an unmet need for an international platform to systematically collect data on incidence, clinical presentation, treatment and disease course.The registry was launched in January 2014. We used internet technology to ensure easy online access using a web browser under www.pcdregistry.eu. Data from 201 patients have been collected so far. The database is comprised of a basic data form including demographic…

0301 basic medicineMalePediatricsDiseaseMedical and Health Sciences0302 clinical medicineForced Expiratory VolumeEpidemiologyMedicineCorticosteroidRegistriesYoung adult610 Medicine & healthChildIntersectoral Collaborationhealth care economics and organizationsPrimary ciliary dyskinesiaΑntibiotic agentIncidence (epidemiology)IncidenceMiddle AgedEuropeChild PreschoolDisease ProgressionFemale360 Social problems & social servicesHumanPulmonary and Respiratory MedicineAdultmedicine.medical_specialtyAdolescenteducationMEDLINE03 medical and health sciencesYoung AdultAge Distributionotorhinolaryngologic diseasesHumansAgedInternetbusiness.industryKartagener SyndromePatient SelectionInfantmedicine.diseaserespiratory tract diseases030104 developmental biology030228 respiratory systemOther Medical SciencesNorth AmericaResearch studiesObservational studyBronchodilating agentbusiness
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Portion size selection in children: Effect of sensory imagery for snacks varying in energy density

2020

Food sensory imagery - creating a vivid mental image of the sensory experience of eating - can lead to the selection of smaller portions because it serves as a reminder that eating enjoyment does not necessarily increase with portion size. The evidence is mostly limited to adults and to energy-dense foods for which it is particularly difficult to predict the satiating effects of consumption quantity. The objective was to study how food sensory imagery influences portion size selection of foods varying in energy density (brownie and applesauce) by 7- to 11-year-old children. During after-school time, 171 children were randomized into two conditions. Children in the food sensory imagery condi…

0301 basic medicineMalePleasureTasteImagery PsychotherapyAdolescentHungerChild Behaviormindful eating030209 endocrinology & metabolismSensory systemfood choiceChoice BehaviorDevelopmental psychology03 medical and health sciencesEatingFood Preferences0302 clinical medicineIntervention (counseling)Serving size0502 economics and businessFood choiceHumans050207 economicsChildGeneral PsychologySelection (genetic algorithm)2. Zero hunger030109 nutrition & dieteticsNutrition and Dietetics050208 financemental imagery[SDV.NEU.PC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Psychology and behavior05 social sciencesdigestive oral and skin physiologyPortion SizechilhoodEnergy densityImaginationFemaleSnacksPsychologyEnergy Intakeenergy density[SDV.AEN]Life Sciences [q-bio]/Food and NutritionMental image
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DNA methylation changes and somatic mutations as tumorigenic events in Lynch syndrome-associated adenomas retaining mismatch repair protein expression

2018

Background: DNA mismatch repair (MMR) defects are a major factor in colorectal tumorigenesis in Lynch syndrome (LS) and 15% of sporadic cases. Some adenomas from carriers of inherited MMR gene mutations have intact MMR protein expression implying other mechanisms accelerating tumorigenesis. We determined roles of DNA methylation changes and somatic mutations in cancer-associated genes as tumorigenic events in LS-associated colorectal adenomas with intact MMR. Methods: We investigated 122 archival colorectal specimens of normal mucosae, adenomas and carcinomas from 57 LS patients. MMR-deficient (MMR-D, n 49) and MMR-proficient (MMR-P, n 18) adenomas were of particular interest and were inter…

0301 basic medicineMaleResearch paperMICROSATELLITE INSTABILITYHYPOMETHYLATIONDNA mismatch repairPHENOTYPEmedicine.disease_causeEpigenesis Genetic0302 clinical medicineCOLORECTAL ADENOMASCDKN2APromoter Regions Geneticcolorectal adenomaDNA methylationLINE-1 methylationTumor suppressorGeneral MedicineMethylationMiddle AgedCANCERTUMORSLynch syndromeDNA-metylaatio3. Good healthDEFICIENCY030220 oncology & carcinogenesisDNA methylationsyöpätauditFemaleColorectal adenomaAdultcongenital hereditary and neonatal diseases and abnormalitiesAdenomatumor suppressorsuolistosyövätColorectal adenomaBiologycomplex mixturesGeneral Biochemistry Genetics and Molecular Biology03 medical and health sciencesBRAF MUTATIONmedicineHumansLynchin oireyhtymäAgedTumor Suppressor ProteinsMicrosatellite instabilityDNAUNE-1 methylationta3122medicine.diseaseGENEColorectal Neoplasms Hereditary Nonpolyposisdigestive system diseasestumorigenesisCOPY NUMBER030104 developmental biologyLynch syndromeLong Interspersed Nucleotide Elements3121 General medicine internal medicine and other clinical medicineMutationTumorigenesisCancer research3111 BiomedicineTumotigenesismutationCarcinogenesisEBioMedicine
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